Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility

Autor: Sumana R. Chintalapudi, Doaa Maria, Xiang Di Wang, Jessica N. Cooke Bailey, NEIGHBORHOOD consortium, International Glaucoma Genetics consortium, Pirro G. Hysi, Janey L. Wiggs, Robert W. Williams, Monica M. Jablonski

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)

Elevated intraocular pressure (IOP) is a heritable risk factor for primary open angle glaucoma. Using forward mouse genetics, cell biology, pharmacology and human genetic data, the authors identify CACNA2D1 as an IOP risk gene that can be therapeutic

Externí odkaz: https://doaj.org/article/af4437df6004461cb8840a6beeadf9f9

Sirtuin Inhibitor as a Novel Cell Cycle Checkpoint and Regulator of the TP53-MDM2 Pathway in Uveal Melanoma

Autor: Hans E. Grossniklaus, Vanessa M. Morales-Tirado, Abigail Lepsch, Mercy W. Kibe, Matthew W. Wilson, Matthew W. McEwen, Qing Zhang, Kelley Yuan, Ryan P. Lee, Xiang Di Wang, Bradley T Gao, Neel Patel, Benjamin King, Hua Yang, Monica M. Jablonsk, Zachary K. Goldsmith, Sumana R Chintalapudi

Publikováno v: The Ophthalmology – Open Journal. 3:21-30

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b65e3bac25589c9cadf85341ef0ef30b
https://doi.org/10.17140/ooj-3-119

A Bayesian Framework for Generalized Linear Mixed Modeling Identifies New Candidate Loci for Late-Onset Alzheimer’s Disease

Autor: Gregory W. Carter, Michael Sasner, Ankit Malhotra, David A. Bennett, Xu-Long Wang, Charles C. White, Krishna R. Murthy Karuturi, Casey J. Acklin, Vivek M. Philip, Sumana R Chintalapudi, Gareth R. Howell, Paul J. Michalski, Philip L. De Jager, Guruprasad Ananda

Publikováno v: Genetics

Recent technical and methodological advances have greatly enhanced genome-wide association studies (GWAS). The advent of low-cost, whole-genome sequencing facilitates high-resolution variant identification, and the development of linear mixed models

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55b104773ed9b10472e15e615e0f1ca8
https://doi.org/10.1534/genetics.117.300673

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility

Autor: S.E. Moroi, Christopher J Hammond, Peter Kraft, Terri L. Young, Tin Aung, Unnar Thorsteinsdottir, R. Rand Allingham, Francesca Pasutto, Murray H. Brilliant, Robert P. Igo, Joel S. Schuman, Paul R. Lichter, Adriana I. Iglesias Gonzalez, Jessica N. Cooke Bailey, Jonathan L. Haines, Chiea Chuen Khor, Robert Ritch, René Hoehn, John H. Fingert, Puya Gharahkhani, Terry Gaasterland, Calvin C P Pang, Cheng Yu Cheng, Louis R. Pasquale, Lisa A Hark, Andrew J. Lotery, Douglas Vollrath, Yutao Liu, David A. Mackey, Stuart MacGregor, William K. Scott, Pirro G. Hysi, Alex W. Hewitt, Jae H. Kang, Cornelia M. van Duijn, Arthur J. Sit, Margaret A. Pericak-Vance, Michael A. Hauser, Peter Bonnemaijer, Veronique Vitart, Kuldev Singh, D. L. Budenz, Doaa Nabih Maria, Gudmar Thorleifsson, Julia R. Richards, Kari Stefansson, Sumana R Chintalapudi, Doug Rhee, Richard K. Lee, Anthony P Khawaja, Anthony Realini, Robert W. Williams, Eranga N. Vithana, Gadi Wollstein, Fridbert Jonansson, Jamie E Craig, Xiang Di Wang, Tanja Zeller, Douglas E. Gaasterland, Donald J. Zack, Caroline C W Klaver, Janey L. Wiggs, Monica M. Jablonski

Publikováno v: Chintalapudi, S R, Maria, D, Di Wang, X, Bailey, J N C, Allingham, R, Brilliant, M, Budenz, D, Fingert, J, Gaasterland, D, Gaasterland, T, Haines, J L, Hark, L, Hauser, M, Igo, R, Hee Kang, J, Kraft, P, Lee, R, Lichter, P, Liu, Y, Moroi, S, Pasquale, L R, Pericak-Vance, M, Realini, A, Rhee, D, Richards, J R, Ritch, R, Schuman, J, Scott, W K, Singh, K, Sit, A, Vollrath, D, Wollstein, G, Zack, D, Aung, T, Bonnemaijer, P, Cheng, C Y, Craig, J, Van Duijn, C, Gharahkhani, P, Iglesias Gonzalez, A, Hammond, C J, Hewitt, A, Hoehn, R, Jonansson, F, Khawaja, A, Chuen Khor, C, Klaver, C C W, Lotery, A, MacKey, D, MacGregor, S, Pang, C, Pasutto, F, Stefansson, K, Thorleifsson, G, Thorsteinsdottir, U, Vitart, V, Vithana, E, Young, T, Zeller, T, Hysi, P G, Wiggs, J L, Williams, R W & Jablonski, M M 2017, ' Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility ', Nature Communications, vol. 8, no. 1, 1755 . https://doi.org/10.1038/s41467-017-00837-5
Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
Nature Communications
Nature Communications, 8(1):1755. Nature Publishing Group

Glaucoma is a multi-factorial blinding disease in which genetic factors play an important role. Elevated intraocular pressure is a highly heritable risk factor for primary open angle glaucoma and currently the only target for glaucoma therapy. Our st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b10ace24e0c92bcd94cc63b53e0738f
http://www.scopus.com/inward/record.url?scp=85035018930&partnerID=8YFLogxK

Isolation of Primary Murine Retinal Ganglion Cells (RGCs) by Flow Cytometry

Autor: Xiang Di Wang, Tony N. Marion, Vanessa M. Morales-Tirado, Need N. Patel, Sumana R Chintalapudi, Zachary K. Goldsmith, Monica M. Jablonski, Levon Djenderedjian

Neurodegenerative diseases often have a devastating impact on those affected. Retinal ganglion cell (RGC) loss is implicated in an array of diseases, including diabetic retinopathy and glaucoma, in addition to normal aging. Despite their importance,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00263dc853ef2615c7ed1920b15a4baf
https://europepmc.org/articles/PMC5608546/